ClinVar Miner

List of variants in gene COL6A1 reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 12
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HGVS dbSNP
NM_001848.2(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.2(COL6A1):c.805G>A (p.Gly269Arg) rs886042856
NM_001848.2(COL6A1):c.823G>C (p.Gly275Arg) rs1556425467
NM_001848.2(COL6A1):c.833G>A (p.Gly278Glu) rs886043106
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.2(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.2(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.2(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679

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